Varaico: Literature-Extracted Genetic Variants

TBK1

739 papers

RefSeq Summary

The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB...

Pfam Domains

Pkinaseaa 9–299UCSCProtein kinase domain

TBK1_ULDaa 308–395UCSCTANK binding kinase 1 ubiquitin-like domain

TBK1_CCD1aa 400–655UCSCTANK-binding kinase 1 coiled-coil domain 1

Gene Aliases

HGNC Name

TANK binding kinase 1

HGNC Alias Symbol

NAK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013254.4

p.P371L

c.1112C>T

Surrounding Variants

2 papers

NM_013254.4

p.F370F

c.1110C>T

2 papers

NM_013254.4

p.K372R

c.1115A>G

2 papers

NM_013254.4

p.Q368*

c.1102C>T

2 papers

NM_013254.4

p.A367V

c.1100C>T

1 paper

NM_013254.4

p.L366R

c.1097T>G

1 paper

NM_013254.4

p.R365S

c.1095G>C

1 paper

NM_013254.4

p.R365S

c.1095G>T

1 paper

NM_013254.4

p.I379_F380delFs

c.1137_1138delAT

1 paper

NM_013254.4

p.G364E

c.1091G>A

1 paper

NM_013254.4

p.G364V

c.1091G>T

1 paper

NM_013254.4

p.I379V

c.1135A>G

1 paper

NM_013254.4

p.P363L

c.1088C>T